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Results: 1 to 20 of 36

1.

Cholestasis

Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS). [from MeSH]

MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
2.

Intrahepatic cholestasis

Impairment of bile flow due to obstruction in the small bile ducts within the liver. [from HPO]

MedGen UID:
504831
Concept ID:
CN001287
Finding
3.

Cholestasis

Impairment of bile flow due to obstruction in bile ducts. [from HPO]

MedGen UID:
504828
Concept ID:
CN001277
Finding
4.

Error occurred: cannot get document summary

ID:
449608

5.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
6.

Progressive intrahepatic cholestasis

ATP8B1 deficiency encompasses a phenotypic spectrum ranging from severe to intermediate to mild, based on an individual’s clinical findings and laboratory test results, including liver biopsy. Severe ATP8B1 deficiency is characterized by onset of symptoms of cholestasis (pruritus and attacks of jaundice) within the first few months of life. Secondary manifestations such as coagulopathy (due to vitamin K deficiency), malabsorption, and poor weight gain may present earlier than age three months. Without surgical intervention, cirrhosis and evolution to end-stage hepatic failure and death usually ensue before the third decade. Mild ATP8B1 deficiency is characterized by intermittent episodes of cholestasis manifest as severe pruritus and jaundice; chronic liver damage does not typically develop. In contrast to patients in whom bouts of cholestasis are induced only by particular triggers known to increase risk of cholestasis (drug exposure, shifts in hormonal milieu [including those resulting from ingestion of contraceptive drugs or from pregnancy], coexistent malignancy), some or all bouts of cholestasis in individuals with mild ATP8B1 deficiency have different or unknown triggers. [from GeneReviews]

MedGen UID:
75668
Concept ID:
C0268312
Disease or Syndrome
7.

Intrahepatic cholestasis

Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). [from MeSH]

MedGen UID:
3042
Concept ID:
C0008372
Disease or Syndrome
8.

Steatorrhea

A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS. [from MeSH]

MedGen UID:
20948
Concept ID:
C0038238
Finding
9.

Lipase

An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC 3.1.1.3. [from MeSH]

MedGen UID:
9778
Concept ID:
C0023764
Pharmacologic Substance
10.

CHYMOTRYPSIN

A serine endopeptidase secreted by the pancreas as its zymogen, CHYMOTRYPSINOGEN and carried in the pancreatic juice to the duodenum where it is activated by TRYPSIN. It selectively cleaves aromatic amino acids on the carboxyl side. [from MeSH]

MedGen UID:
971
Concept ID:
C0008742
Pharmacologic Substance
11.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
12.

Exocrine pancreatic insufficiency

Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. [from HPO]

MedGen UID:
504939
Concept ID:
CN001582
Finding
13.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
14.

Exocrine pancreatic insufficiency

A malabsorption condition resulting from greater than 10% reduction in the secretion of pancreatic digestive enzymes (LIPASE; PROTEASES; and AMYLASE) by the EXOCRINE PANCREAS into the DUODENUM. This condition is often associated with CYSTIC FIBROSIS and with chronic PANCREATITIS. [from MeSH]

MedGen UID:
75647
Concept ID:
C0267963
Disease or Syndrome
15.

Pancreatic insufficiency

MedGen UID:
45295
Concept ID:
C0030293
Disease or Syndrome
16.

Avazyme

MedGen UID:
289909
Concept ID:
C1564765
Pharmacologic Substance
17.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Pharmacologic Substance
18.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
19.

Metabolic Diseases

Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) [from MeSH]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
20.

Malabsorption Syndrome

General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients. [from MeSH]

MedGen UID:
44256
Concept ID:
C0024523
Disease or Syndrome

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